Search filters

List of works by Alessandro Aiuti

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

scientific article published on 13 February 2019

A highly efficacious lymphocyte chemoattractant, stromal cell-derived factor 1 (SDF-1)

scientific article

A map of human circular RNAs in clinically relevant tissues.

scientific article published on 25 August 2017

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

A novel genomic inversion in Wiskott-Aldrich-associated autoinflammation

scientific article published on 21 April 2016

A novel human packaging cell line with hematopoietic supportive capacity increases gene transfer into early hematopoietic progenitors.

scientific article

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

scientific article

AQP8 transports NOX2-generated H2O2 across the plasma membrane to promote signaling in B cells.

scientific article published on 2 June 2016

Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients

scientific article published on 6 March 2015

Advances in gene therapy for ADA-deficient SCID.

scientific article

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

scientific article

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

scientific article published on 11 January 2017

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency

scientific article

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients.

scientific article published on 9 June 2015

Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation

scientific article published on 5 February 2018

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

scientific article published on 5 February 2014

B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article published on 16 March 2015

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published in May 2003

Biological and functional characterization of bone marrow-derived mesenchymal stromal cells from patients affected by primary immunodeficiency.

scientific article published on 15 August 2017

Bone marrow-derived CD34(-) fraction: A rich source of mesenchymal stromal cells for clinical application

scientific article published on 11 October 2016

Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase

scientific article published on 01 July 2007

Cell-Surface Marking of CD34+-Restricted Phenotypes of Human Hematopoietic Progenitor Cells by Retrovirus-Mediated Gene Transfer ⬇️

scientific article published on September 1, 1997

Challenges in vector and trial design using retroviral vectors for long-term gene correction in hematopoietic stem cell gene therapy

scientific article published in June 2012

Chronic granulomatous disease presenting with salmonella brain abscesses.

scientific article published on May 2014

Clinical applications of gene therapy for primary immunodeficiencies

scientific article published on April 2015

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

scientific article published on 20 March 2014

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

scientific article

Complement activation is variably affected by fibronectin preparations obtained through different procedures

scientific article published on 01 January 1988

Comprehensive genomic access to vector integration in clinical gene therapy

scientific article published on 22 November 2009

Control of human coagulation by recombinant serine proteases. Blood clotting is activated by recombinant factor XII deleted of five regulatory domains.

scientific article

Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

scientific article published in June 2002

Current understanding of the Wiskott-Aldrich syndrome and prospects for gene therapy.

scientific article

Decreased apoptosis of bone marrow progenitor cells in HIV-1-infected patients during highly active antiretroviral therapy

scientific article

Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy

scientific article

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.

scientific article published on 29 August 2014

Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients.

scientific article published on November 2006

Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome

scientific article

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis.

scientific article published on 29 May 2014

Early-onset monocyte–B–natural killer–dendritic cells’ deficiency successfully treated with hematopoietic stem cell transplantation

scientific article published on 25 August 2011

Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation.

scientific article published in March 2006

Efficient Ex Vivo Engineering and Expansion of Highly Purified Human Hematopoietic Stem and Progenitor Cell Populations for Gene Therapy

scientific article published on 13 March 2017

Efficient gene transfer into primitive hematopoietic progenitors using a bone marrow microenvironment cell line engineered to produce retroviral vectors.

scientific article published on April 2004

Etiology, clinical outcome, and laboratory features in children with neutropenia: analysis of 104 cases

scientific article published on 10 December 2013

Evaluation of ADA gene expression and transduction efficiency in ADA/SCID patients undergoing gene therapy.

scientific article published in October 2004

Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models

scientific article

Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects

scientific article published on 11 July 2006

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.

scientific article published on 2 February 2018

Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety

scientific article published on 4 January 2018

Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products

scientific article

Gene therapy for Wiskott-Aldrich Syndrome.

scientific article

Gene therapy for adenosine deaminase deficiency

scientific article published in December 2003

Gene therapy for adenosine deaminase deficiency

scientific article published on 01 May 2010

Gene therapy for adenosine-deaminase-deficient severe combined immunodeficiency.

scientific article published in September 2004

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

scientific article

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.

scientific article published on 30 May 2017

Gene therapy for primary immunodeficiencies: Part 1.

scientific article published on 12 September 2012

Gene therapy for primary immunodeficiencies: Part 2.

scientific article published on 18 August 2012

Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.

scientific article published on 6 April 2018

Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice.

scientific article

HIV type 1 protease inhibitors enhance bone marrow progenitor cell activity in normal subjects and in HIV type 1-infected patients

scientific article published in January 2005

Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID.

scientific article

Hematopoietic support and cytokine expression of murine-stable hepatocyte cell lines (MMH).

scientific article published on December 1998

Hot spots of retroviral integration in human CD34+ hematopoietic cells

scientific article

Human CD26 expression in transgenic mice affects murine T-cell populations and modifies their subset distribution

scientific article published on 01 September 2002

Human CD34(+) cells express CXCR4 and its ligand stromal cell-derived factor-1. Implications for infection by T-cell tropic human immunodeficiency virus.

scientific article published on July 1999

Human CD4 produced in lymphoid cells of transgenic mice binds HIV gp120 and modifies the subsets of mouse T-cell populations

scientific article published on 01 January 1993

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

scientific article

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

IL-3 or IL-7 increases ex vivo gene transfer efficiency in ADA-SCID BM CD34+ cells while maintaining in vivo lymphoid potential.

scientific article published in December 2004

Identification of distinct elements of the stromal microenvironment that control human hematopoietic stem/progenitor cell growth and differentiation

scientific article published on 01 February 1998

Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement

scientific article published in May 2002

Immunotherapy of acute leukemia by chimeric antigen receptor-modified lymphocytes using an improved Sleeping Beauty transposon platform

scientific article published on 13 June 2016

Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent

scientific article published on 2 February 2018

In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiency ⬇️

scientific article published on April 7, 2011

In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells

scientific article published on February 2015

Induction of CD4+ T cell depletion in mice doubly transgenic for HIV gp120 and human CD4

article

Insertion sites in engrafted cells cluster within a limited repertoire of genomic areas after gammaretroviral vector gene therapy

scientific article published on 23 August 2011

Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.

scientific article

Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell

scientific article

In Vivo Tracking of Human Hematopoiesis Reveals Patterns of Clonal Dynamics during Early and Steady-State Reconstitution Phases

scientific article published on 25 May 2016

Lack of evidence for a superantigen in lymphocytes from HIV-discordant monozygotic twins

scientific article published on 01 April 1994

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

scientific article published on 21 October 2016

Lentiviral Vector Gene Therapy Protects XCGD Mice From Acute Staphylococcus aureus Pneumonia and Inflammatory Response.

scientific article published on 26 July 2016

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.

scientific article published on 8 June 2016

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy

scientific article

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article

Lentiviral vector-mediated gene transfer in T cells from Wiskott-Aldrich syndrome patients leads to functional correction.

scientific article

Lentiviral vectors for the treatment of primary immunodeficiencies

scientific article published on 12 March 2014

Lentiviral vectors targeting WASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients.

scientific article published on 19 October 2006

Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome

scientific article

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients

scientific article

Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience.

scientific article

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

scientific article published on 11 December 2017

Longitudinal Evaluation of Immune Reconstitution and B-cell Function After Hematopoietic Cell Transplantation for Primary Immunodeficiency.

scientific article

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

scientific article published on 14 February 2007

Membrane expression of HLA-Cw4 free chains in activated T cells of transgenic mice

scientific article published on 01 January 1995

Mobilized blood CD34+ cells transduced and selected with a clinically applicable protocol reconstitute lymphopoiesis in SCID-Hu mice.

scientific article published in March 2004

Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy

scientific article published in August 2007

Multiparametric Whole Blood Dissection: A one-shot comprehensive picture of the human hematopoietic system.

scientific article published on 13 June 2017

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I.

scientific article published on 25 August 2017

Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome

scientific article published on 12 February 2018

New perspectives in gene therapy for inherited disorders

scientific article published on 01 February 2020

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

scientific article published on 01 May 2019

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article published on 12 July 2012

Pioglitazone as a novel therapeutic approach in chronic granulomatous disease.

scientific article published on 04 April 2016

Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome

scientific article

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Progress in gene therapy for primary immunodeficiencies using lentiviral vectors.

scientific article published on December 2014

Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency.

scientific article published on 29 April 2011

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

scientific article

Relevance of an academic GMP Pan-European vector infra-structure (PEVI).

scientific article published on December 2010

Retroviral integrations in gene therapy trials

scientific article

Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

scientific article

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.

scientific article published on 11 May 2010

SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells.

scientific article

Safer conditioning for blood stem cell transplants.

scientific article published in July 2016

Safety of retroviral gene marking with a truncated NGF receptor

scientific article published on 01 April 2003

Serratia marcescens Osteomyelitis in a Newborn with Chronic Granulomatous Disease

scientific article published on 01 August 2013

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction.

scientific article published on 14 September 2017

Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia

scientific article published on 8 August 2002

Successful Treatment With Percutaneous Transhepatic Alcoholization of a Liver Abscess in a Child With Chronic Granulomatous Disease

scientific article published on 01 September 2011

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

T-cell suicide gene therapy prompts thymic renewal in adults after hematopoietic stem cell transplantation.

scientific article

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

article

Ten years of gene therapy for primary immune deficiencies.

scientific article published on January 2009

The 5' sequence of human factor XII gene contains transcription regulatory elements typical of liver specific, estrogen-modulated genes.

scientific article published on February 1993

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function.

scientific article published on 23 March 2009

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

scientific article published on 27 December 2015

The chemokine SDF-1 is a chemoattractant for human CD34+ hematopoietic progenitor cells and provides a new mechanism to explain the mobilization of CD34+ progenitors to peripheral blood.

scientific article

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

The role of conditioning in hematopoietic stem cell gene therapy.

scientific article published on 16 August 2016

Tracking genetically engineered lymphocytes long-term reveals the dynamics of T cell immunological memory.

scientific article

Transcriptional targeting of retroviral vectors to the erythroblastic progeny of transduced hematopoietic stem cells.

scientific article published on May 1999

Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.

scientific article published on 28 August 2017

Unpredictability of intravenous busulfan pharmacokinetics in children undergoing hematopoietic stem cell transplantation for advanced beta thalassemia: limited toxicity with a dose-adjustment policy.

scientific article published on 4 December 2009

Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

scientific article published on 29 April 2016

Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy

scientific article

Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies

scientific article published on 10 December 2020

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

scientific article

Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation.

scientific article published in August 2002

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells

scientific article published on 21 January 2013

[Gene therapy in pediatrics]

scientific article published on 01 December 2009

[Pediatric testing and primary immunodeficiencies]

scientific article published on 01 December 2009

Paulina is supported by:

About Paulina

Help